Whole-Body MRI in Limb Girdle Muscular Dystrophy Type R1/2A: Correlation With Clinical Scores.

INTRODUCTION/AIM: The most common limb girdle muscular dystrophy (LGMD) worldwide is LGMD type R1 (LGMDR1). The aim of this study was to correlate the MRI findings with functional scores and to describe the whole-body MRI (WBMRI) pattern in a LGMDR1 Brazilian cohort. METHODS: LGMDR1 patients under follow-up in three centers were referred for the study. Clinical data were collected and a functional evaluation was performed, consisting of Gardner-Medwin and Walton (GMW) and Brooke scales. All patients underwent a WBMRI study (1.5T) with axial T1 and STIR images. Fifty-one muscles were semiquantitatively assessed regarding fatty infiltration and muscle edema. RESULTS: The study group consisted of 18 patients. The highest fatty infiltration scores involved the serratus anterior, biceps femoris long head, adductor magnus, and lumbar erector spinae. There was a latero-medial and caudo-cranial descending gradient of involvement of the paravertebral muscles, with erector spinae being significantly more affected than the transversospinalis muscles (p < 0.05). A striped appearance that has been dubbed the "pseudocollagen sign" was present in 72% of the patients. There was a positive correlation between the MRI score and GMW (Rho:0.83) and Brooke (Rho:0.53) scores. DISCUSSION: WBMRI in LGMDR1 allows a global patient evaluation including involvement of the paraspinal muscles, usually an underestimated feature in the clinical and imaging study of myopathies. Knowledge of the WBMRI pattern of LGMDR1 involvement can be useful in the diagnostic approach and in future studies to identify the best target muscles to serve as outcome measures in clinical trials.

Imaging Review of Normal and Abnormal Skeletal Maturation.

The growing skeleton undergoes well-described and predictable normal developmental changes, which may be misinterpreted a as pathologic condition at imaging. Primary and secondary ossification centers (SOCs), which form the diaphysis and the epiphysis of long bones, respectively, are formed by endochondral and intramembranous ossification processes. During skeletal maturation, the SOCs may appear irregular and fragmented, which should not be confused with fractures, osteochondritis dissecans, and osteochondrosis. These normal irregularities are generally symmetric with a smooth, round, and sclerotic appearance, which are aspects that help in the differentiation. The metaphysis, epiphysis, and growth plates or physes are common sites of injuries and normal variants in the pediatric skeleton. The metaphysis contains the newly formed bone from endochondral ossification and is highly vascularized. It is predisposed to easy spread of infections and bone tumors. The physis is the weakest structure of the immature skeleton. Injuries to this location may disrupt endochondral ossification and lead to growth disturbances. Pathologic conditions of the epiphyses may extend into the articular surface and lead to articular damage. At MRI, small and localized foci of bone marrow changes within the epiphysis and metaphysis are also a common finding. These can be related to residual red marrow (especially in the metaphysis of long bones and hindfoot), focal periphyseal edema (associated with the process of physeal closure), and ultimately to a normal ossification process. The authors review the imaging appearance of normal skeletal maturation and discuss common maturation disorders on the basis of developmental stage and location. ©RSNA, 2022.